Figure 1
Genotypes of cystic fibrosis patients diagnosed with newborn screening_
| Genotype (legacy name) | Genotype (cDNA name) | n |
|---|---|---|
| F508del/F508del | c.1521_1523delCTT/c.1521_1523delCTT | 10 |
| F508del/G542X | c.1521_1523delCTT/c1624G>T | 3 |
| F508del/G1349D | c.1521_1523delCTT/c.4046G>A | 1 |
| G542X/N1303K | c.1624G>T/c.3909C>G | 1 |
| N1303K/G126D | c.3909C>G/c.377G>A | 1 |
| 457TAT>G/CFTRdupexon22 | c.325_327delTATinsG/CFTRdupexon22a | 1 |